IllnessFolate malabsorption, hereditary; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Folate malabsorption, hereditary comprising altogether 13 curated genes according to the clinical signs

FP9222

Number of genes

13 Accredited laboratory test

Examined sequence length

1,3 kb (Core-/Core-canditate-Genes)
24,9 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
SLC46A1	1297	611672	NM_001242366.3	AR
ABCD4	1821	603214	NM_005050.4	AR
FOLR1	774	136430	NM_016725.3	AR
FTCD	1626	606806	NM_006657.3	AR
HCFC1	6108	300019	NM_005334.3	XLR
IL2RG	1110	308380	NM_000206.3	XLR
LMBRD1	1623	612625	NM_018368.4	AR
MMACHC	849	609831	NM_015506.3	AR
MMADHC	891	611935	NM_015702.3	AR
MTR	3798	156570	NM_000254.3	AR
MTRR	2097	602568	NM_002454.3	AR
THAP11	946	609119	NM_020457.3	AR
ZNF143	1935	603433	NM_003442.6	AR

Informations about the disease

Synonyms

Allelic: Neural tube defects, folate-sensitive, susceptibility to (MTHFD1)
Allelic: Neural tube defects, folate-sensitive, susceptibility to (MTR, MTRR)
Combined immunodeficiency + megaloblastic anemia with/-out hyperhomocysteinemia (MTHFD1)
Combined immunodeficiency, XL, moderate (IL2RG)
Folate malabsorption, hereditary (SLC46A1)
Glutamate formiminotransferase deficiency (FTCD)
Homocystinuria, cblD type, variant 1 (MMADHC)
Homocystinuria-megaloblastic anemia, cbl E type (MTRR)
Homocystinuria-megaloblastic anemia, cblG complementation type (MTR)
Mental retardation, XL 3 [methylmalonic acidemia + homocysteinemia, cblX type] (HCFC1)
Methylmalonic aciduria + homocystinuria, cblC type (MMACHC)
Methylmalonic aciduria + homocystinuria, cblD type (MMADHC)
Methylmalonic aciduria + homocystinuria, cblF type (LMBRD1)
Methylmalonic aciduria + homocystinuria, cblJ type (ABCD4)
Methylmalonic aciduria, cblD type, variant 2 (MMADHC)
Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
Severe combined immunodeficiency, XL (IL2RG)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined